Rare Diseases Symptoms Automatic Extraction

MRI hydrographic 3D sequences in CADASIL.

[cadasil]

Two patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) (figure), evolving with cognitive deterioration, had MRI. Hydrographic 3D high-resolution turbo spin-echo (TSE) with variable flip angle sequence (SPACE) was performed to demonstrate the subcortical lacunar lesions (SLL) (figure, A and B), considered specific in CADASIL.(1.)

Diseases presenting "leukoencephalopathy" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • epidermolysis bullosa simplex
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • krabbe disease
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated